Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement S Sethi, FC Fervenza, Y Zhang, L Zand, NC Meyer, N Borsa, SH Nasr, ... Kidney international 83 (2), 293-299, 2013 | 228 | 2013 |
Statistical validation of rare complement variants provides insights into the molecular basis of atypical hemolytic uremic syndrome and C3 glomerulopathy AJ Osborne, M Breno, NG Borsa, F Bu, V Frémeaux-Bacchi, DP Gale, ... The Journal of Immunology 200 (7), 2464-2478, 2018 | 156 | 2018 |
A thiazide test for the diagnosis of renal tubular hypokalemic disorders G Colussi, A Bettinelli, S Tedeschi, ME De Ferrari, ML Syre, C Mattiello, ... Clinical Journal of the American Society of Nephrology 2 (3), 454-460, 2007 | 149 | 2007 |
High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies F Bu, NG Borsa, MB Jones, E Takanami, C Nishimura, JJ Hauer, H Azaiez, ... Journal of the American Society of Nephrology 27 (4), 1245-1253, 2016 | 111 | 2016 |
Defining the complement biomarker profile of C3 glomerulopathy Y Zhang, CM Nester, B Martin, MO Skjoedt, NC Meyer, D Shao, N Borsa, ... Clinical journal of the American Society of Nephrology 9 (11), 1876-1882, 2014 | 101 | 2014 |
Patients with biallelic mutations in the chloride channel gene CLCNKB: long-term management and outcome A Bettinelli, N Borsa, R Bellantuono, ML Syrèn, R Calabrese, A Edefonti, ... American journal of kidney diseases 49 (1), 91-98, 2007 | 84 | 2007 |
Long-term follow-up of patients with Bartter syndrome type I and II E Puricelli, A Bettinelli, N Borsa, F Sironi, C Mattiello, F Tammaro, ... Nephrology Dialysis Transplantation 25 (9), 2976-2981, 2010 | 78 | 2010 |
Genetic analysis of 400 patients refines understanding and implicates a new gene in atypical hemolytic uremic syndrome F Bu, Y Zhang, K Wang, NG Borsa, MB Jones, AO Taylor, E Takanami, ... Journal of the American Society of Nephrology 29 (12), 2809-2819, 2018 | 70 | 2018 |
The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome F Crovetto, N Borsa, B Acaia, C Nishimura, K Frees, RJH Smith, ... The journal of maternal-fetal & neonatal medicine 25 (11), 2322-2325, 2012 | 55 | 2012 |
Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene X Xiao, C Ghossein, A Tortajada, Y Zhang, N Meyer, M Jones, NG Borsa, ... Molecular immunology 77, 89-96, 2016 | 53 | 2016 |
Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome F Bu, NC Meyer, Y Zhang, NG Borsa, C Thomas, C Nester, RJH Smith American journal of kidney diseases 65 (6), 968-969, 2015 | 52 | 2015 |
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects F Bu, N Borsa, A Gianluigi, RJH Smith Journal of Immunology Research 2012, 2012 | 52 | 2012 |
Pretransplant genetic susceptibility: clinical relevance in transplant-associated thrombotic microangiopathy E Gavriilaki, T Touloumenidou, I Sakellari, I Batsis, D Mallouri, ... Thrombosis and haemostasis 120 (04), 638-646, 2020 | 40 | 2020 |
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease C Malafronte, N Borsa, S Tedeschi, ML Syrèn, S Stucchi, MG Bianchetti, ... Pediatric Nephrology 19, 1413-1415, 2004 | 39 | 2004 |
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome A Bettinelli, N Borsa, ML Syrén, C Mattiello, D Coviello, A Edefonti, ... Pediatric research 58 (6), 1269-1273, 2005 | 34 | 2005 |
Factor H autoantibodies and complement-mediated diseases Y Zhang, N Ghiringhelli Borsa, D Shao, A Dopler, MB Jones, NC Meyer, ... Frontiers in immunology 11, 607211, 2020 | 22 | 2020 |
C3 glomerulonephritis secondary to mutations in factors H and I: rapid recurrence in deceased donor kidney transplant effectively treated with eculizumab N Garg, Y Zhang, A Nicholson-Weller, EV Khankin, NG Borsa, NC Meyer, ... Nephrology Dialysis Transplantation 33 (12), 2260-2265, 2018 | 21 | 2018 |
Hearing loss disorders associated with renal disease WJ Kimberling, N Borsa, RJH Smith Medical Genetics in the Clinical Practice of ORL 70, 75-83, 2011 | 17 | 2011 |
Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome Y Zhang, RA Kremsdorf, CJ Sperati, KJ Henriksen, M Mori, ... Kidney international 98 (5), 1265-1274, 2020 | 14 | 2020 |
Thrombotic microangiopathy without renal involvement: two novel mutations in complement‐regulator genes F Peyvandi, R Rossio, B Ferrari, LA Lotta, S Pontiggia, NG Borsa, ... Journal of Thrombosis and Haemostasis 14 (2), 340-345, 2016 | 10 | 2016 |